PSACH
MCID: PSD012
MIFTS: 67

Pseudoachondroplasia (PSACH) malady

Bone diseases, Fetal diseases categories

Summaries for Pseudoachondroplasia

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8Disease Ontology, 42NIH Rare Diseases, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 Pseudoachondroplasia is an inherited disorder of bone growth which is characterized by short stature. other features include short arms and legs, a waddling walk, early-onset joint pain (osteoarthritis), and a limited range of motion at the elbows and hips. intelligence, facial features and head size are normal. pseudoachondroplasia is caused by mutations in the comp gene. this condition is inherited in an autosomal dominant pattern. last updated: 1/19/2011

MalaCards: Pseudoachondroplasia, also known as pseudoachondroplastic dysplasia, is related to multiple epiphyseal dysplasia and achondroplasia, and has symptoms including short foot/brachydactyly of toes, abnormal gait and articular/joint pain/arthralgia. An important gene associated with Pseudoachondroplasia is COMP (cartilage oligomeric matrix protein), and among its related pathways are Malaria and Cell adhesion ECM remodeling. The compounds pentosidine and neurocan have been mentioned in the context of this disorder. Affiliated tissues include bone, and related mouse phenotypes are craniofacial and limbs/digits/tail.

Disease Ontology:8 An osteochondrodysplasia that has material basis in mutations in the comp gene which results in short limb dwarfism.

Genetics Home Reference:21 Pseudoachondroplasia is an inherited disorder of bone growth. It was once thought to be related to another disorder of bone growth called achondroplasia, but without that disorder's characteristic facial features. More research has demonstrated that pseudoachondroplasia is a separate disorder.

Wikipedia:63 Pseudoachondroplasia is a type of short-limb dwarfism. It is a genetic autosomal dominant disorder. It... more...

Description from OMIM:46 177170

GeneReviews summary for psach

Aliases & Classifications for Pseudoachondroplasia

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8Disease Ontology, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 46OMIM, 10DISEASES, 48Orphanet, 60UMLS, 44Novoseek, 22GTR, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 35MESH via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Bone diseases


Characteristics (Orphanet epidemiological data):

48
pseudoachondroplasia:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

pseudoachondroplasia 8 9 19 42 20 21 46 10 48 60
pseudoachondroplastic dysplasia 8 19 42 21 48
psach 19 42 21 44
pseudoachondroplastic spondyloepiphyseal dysplasia syndrome 42 22 21
spondyloepiphyseal dysplasia, pseudoachondroplastic 8 42
pseudoachondroplastic spondyloepiphyseal dysplasia 42 48


External Ids:

Disease Ontology8 DOID:0080047
OMIM46 177170
ICD10 via Orphanet26 Q77.8
SNOMED-CT via Orphanet57 22567005
UMLS via Orphanet61 C0410538
MESH via Orphanet35 C535819

Related Diseases for Pseudoachondroplasia

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Pseudoachondroplasia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 47)
idRelated DiseaseScoreTop Affiliating Genes
1multiple epiphyseal dysplasia30.9COMP, DM1
2achondroplasia30.2COMP, COL2A1, ACAN
3cartilage disease30.1COL10A1, COL2A1
4dwarfism30.1COMP, COL2A1, ACAN
5diastrophic dysplasia30.1COMP, COL2A1, COL9A2, COL9A3, MATN3, SLC26A2
6myopathy29.9COMP
7asphyxiating thoracic dystrophy10.3
8spondyloepiphyseal dysplasia congenita10.2
9cervicitis10.1
10achondrogenesis10.0SLC26A2
11relapsing polychondritis10.0MATN1
12cleft palate10.0COL2A1
13kniest dysplasia10.0COL2A1
14atelosteogenesis10.0SLC26A2
15retinal detachment10.0COL2A1
16metaphyseal dysplasia10.0COL10A1, COL2A1
17spondyloepimetaphyseal dysplasia, strudwick type10.0COL10A1, COL2A1
18spondyloepimetaphyseal dysplasia10.0MATN3, COMP
19osteochondrodysplasia10.0SLC26A2, COMP
20clubfoot10.0COL9A1, SLC26A2
21otomycosis10.0CALM3
22x-linked spondyloepiphyseal dysplasia tarda10.0ACAN, COL2A1
23brachydactyly10.0COMP, COL2A1
24stickler syndrome10.0COL2A1, COL9A1, COL9A2
25chondrosarcoma10.0COMP, COL10A1, ACAN
26short stature10.0MATN3, COL2A1, COL10A1, COMP
27lumbar disc disease10.0COL9A3, COL9A2
28myopia 610.0DCN, FMOD, COL2A1
29degenerative disc disease10.0COL9A2, COL9A3
30osteochondritis dissecans10.0COL9A1, COL9A2, COL9A3, ACAN
31arthritis10.0ACAN, COL2A1
32multiple epiphyseal dysplasia, dominant10.0COMP, COL9A1, COL9A2, COL9A3, MATN3
33synovitis10.0COMP, COL2A1, MATN1, ACAN
34arthropathy10.0ACAN, DCN, COL2A1, COMP
35skeletal dysplasias10.0ACAN, SLC26A2, COL2A1, COL10A1, COMP
36campomelic dysplasia10.0COL9A2, COL2A1
37hypertrophy of breast10.0COMP, COL10A1, COL2A1, DCN, MATN1, ACAN
38rheumatoid arthritis10.0COMP, COL2A1, COL9A2, HAPLN1, DCN, ACAN
39osteoarthritis10.0THBS1, ACAN, MATN1, MATN3, COMP, COL10A1
40tendinopathy9.9
41mitral valve prolapse9.9
42cerebritis9.9
43osteogenesis imperfecta9.9
44asthma9.9
45collagen disease9.9
46multiple epiphyseal dysplasia, recessive9.9
47pseudoachondroplastic dysplasia 29.9

Graphical network of the top 20 diseases related to Pseudoachondroplasia:



Diseases related to pseudoachondroplasia

Clinical Features for Pseudoachondroplasia

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46OMIM, 48Orphanet
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Clinical features from OMIM:

177170

Clinical synopsis from OMIM:

177170

Symptoms:

48 (show all 24)
  • short foot/brachydactyly of toes
  • abnormal gait
  • articular/joint pain/arthralgia
  • osteoarthritis
  • restricted joint mobility/joint stiffness/ankylosis
  • hyperextensible joints/articular hyperlaxity
  • kyphosis
  • odontoid hypoplasia
  • genu valgum
  • genu varum
  • platyspondyly
  • scoliosis
  • lordosis
  • wrist/carpal anomalies
  • short hand/brachydactyly
  • metacarpal anomalies/archibald's sign
  • delayed bone age
  • metaphyseal anomaly
  • epiphyseal anomaly
  • bowed diaphysis/diaphyses/long bones
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • autosomal dominant inheritance
  • short stature/dwarfism/nanism
  • short limbs/micromelia/brachymelia

Drugs & Therapeutics for Pseudoachondroplasia

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Pseudoachondroplasia

Drug clinical trials:

Search ClinicalTrials for Pseudoachondroplasia

Search NIH Clinical Center for Pseudoachondroplasia

Search CenterWatch for Pseudoachondroplasia

Genetic Tests for Pseudoachondroplasia

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20GeneTests, 22GTR
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Genetic tests related to Pseudoachondroplasia:

id Genetic test Affiliating Genes
1 Pseudoachondroplasia20 COMP
2 Pseudoachondroplastic Spondyloepiphyseal Dysplasia Syndrome22

Anatomical Context for Pseudoachondroplasia

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32MalaCards
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MalaCards organs/tissues related to Pseudoachondroplasia:

32
Bone

Animal Models for Pseudoachondroplasia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Pseudoachondroplasia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.1COL2A1, HAPLN1, DCN, SLC26A2, ACAN, COL10A1
2MP:00053718.0ACAN, COMP, COL10A1, COL2A1, COL9A1, FMOD
3MP:00053877.8COL9A1, COL2A1, COL10A1, COMP, FMOD, DCN
4MP:00053787.8COMP, COL10A1, COL2A1, FMOD, HAPLN1, DCN
5MP:00053907.4FMOD, COL9A1, COL2A1, COL10A1, COMP, HAPLN1

Publications for Pseudoachondroplasia

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50PubMed
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Articles related to Pseudoachondroplasia:

(show top 50)    (show all 98)
idTitleAuthorsYear
1
Chondrocyte-Specific Pathology During Skeletal Growth and Therapeutics in a Murine Model of Pseudoachondroplasia. (24194321)
2013
2
Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. (21922596)
2012
3
Identification of novel and recurrent mutations in the calcium binding type III repeats of cartilage oligomeric matrix protein in patients with pseudoachondroplasia. (21644213)
2011
4
A novel COMP mutation in a pseudoachondroplasia family of Chinese origin. (21599986)
2011
5
Difficult to control asthma in the patient with pseudoachondroplasia. (22675014)
2011
6
A novel COMP mutation in an Inuit patient with pseudoachondroplasia and severe short stature. (20830670)
2010
7
A mouse model offers novel insights into the myopathy and tendinopathy often associated with pseudoachondroplasia and multiple epiphyseal dysplasia. (19808781)
2010
8
Novel human pathological mutations. Gene symbol: COMP. Disease: pseudoachondroplasia. (19320037)
2009
9
An inducible cartilage oligomeric matrix protein mouse model recapitulates human pseudoachondroplasia phenotype. (19762713)
2009
10
Multilayered patella: similar radiographic findings in pseudoachondroplasia and recessive multiple epiphyseal dysplasia. (18546327)
2008
11
Serum or plasma cartilage oligomeric matrix protein concentration as a diagnostic marker in pseudoachondroplasia: differential diagnosis of a family. (17579668)
2007
12
Upper cervical spine instability in pseudoachondroplasia. (17878785)
2007
13
Expression of mutant cartilage oligomeric matrix protein in human chondrocytes induces the pseudoachondroplasia phenotype. (16514635)
2006
14
Disruption of extracellular matrix structure may cause pseudoachondroplasia phenotypes in the absence of impaired cartilage oligomeric matrix protein secretion. (16928687)
2006
15
Novel and recurrent mutations in the C-terminal domain of COMP cluster in two distinct regions and result in a spectrum of phenotypes within the pseudoachondroplasia -- multiple epiphyseal dysplasia disease group. (15880723)
2005
16
Novel and recurrent exon 13 mutations of COMP in pseudoachondroplasia. (15523619)
2005
17
Characterization of a pseudoachondroplasia-associated mutation (His587-->Arg) in the C-terminal, collagen-binding domain of cartilage oligomeric matrix protein (COMP). (14580238)
2004
18
Role of TSP-5/COMP in pseudoachondroplasia. (15094116)
2004
19
Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia. (12483304)
2003
20
Apoptosis staining in cultured pseudoachondroplasia chondrocytes. (12766479)
2003
21
Identification of cartilage oligomeric matrix protein (COMP) gene mutations in patients with pseudoachondroplasia and multiple epiphyseal dysplasia. (12768438)
2003
22
Novel mutations of the cartilage oligomeric matrix protein (COMP) gene in two Japanese patients with pseudoachondroplasia. (12792737)
2003
23
Pseudoachondroplasia is caused through both intra- and extracellular pathogenic pathways. (12189245)
2002
24
Novel mutation in exon 18 of the cartilage oligomeric matrix protein gene causes a severe pseudoachondroplasia. (11746044)
2001
25
Selective intracellular retention of extracellular matrix proteins and chaperones associated with pseudoachondroplasia. (11691584)
2001
26
Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments. (11891674)
2001
27
Calreticulin, PDI, Grp94 and BiP chaperone proteins are associated with retained COMP in pseudoachondroplasia chondrocytes. (11470401)
2001
28
Pseudoachondroplasia in a child with prolapse of the mitral valve. (11727914)
2001
29
Molecular diagnosis is important to confirm suspected pseudoachondroplasia. (10691412)
2000
30
Bilateral total hip replacement in pseudoachondroplasia. (11103496)
2000
31
Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasia. (9921895)
1998
32
Characterization of cartilage oligomeric matrix protein (COMP) in human normal and pseudoachondroplasia musculoskeletal tissues. (9749943)
1998
33
Identification of five novel mutations in cartilage oligomeric matrix protein gene in pseudoachondroplasia and multiple epiphyseal dysplasia. (9452026)
1998
34
Identification of twelve mutations in cartilage oligomeric matrix protein (COMP) in patients with pseudoachondroplasia. (9880218)
1998
35
Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum. (9463320)
1998
36
Mosaicism in pseudoachondroplasia. (9188668)
1997
37
Mutations in the cartilage oligomeric matrix protein (COMP) gene in pseudoachondroplasia and multiple epiphyseal dysplasia. (8702126)
1996
38
High-resolution genetic and physical mapping of multiple epiphyseal dysplasia and pseudoachondroplasia mutations at chromosome 19p13.1-p12. (7490089)
1995
39
A large family with features of pseudoachondroplasia and multiple epiphyseal dysplasia: exclusion of seven candidate gene loci that encode proteins of the cartilage extracellular matrix. (7907311)
1994
40
Odontoid hypoplasia, atlanto-axial instability and cervical myelopathy in pseudoachondroplasia. (17589060)
1994
41
Pseudoachondroplasia with immune deficiency. (3263611)
1988
42
Pseudoachondroplasia: clinical diagnosis at different ages and comparison of autosomal dominant and recessive types. A review of 32 patients (26 kindreds). (3783619)
1986
43
Severe pseudoachondroplasia with parental consanguinity. (3989835)
1985
44
Pseudoachondroplasia: biochemical and histochemical studies of cartilage. (6438109)
1984
45
Pathogenesis of pseudoachondroplasia and diastrophic dysplasia. (6298815)
1982
46
Growth curves for height for diastrophic dysplasia, spondyloepiphyseal dysplasia congenita, and pseudoachondroplasia. (6803579)
1982
47
Pseudoachondroplasia. (1201340)
1975
48
Gel electrophoretic studies on proteoglycans and collagen of abnormal human growth cartilage: proteoglycan abnormalities in pseudoachondroplasia and in Kniest's disease. (127160)
1975
49
Picture of the month. Pseudoachondroplasia (pseudoachondroplastic spondlyloepiphyseal dysplasia). (4440652)
1974
50
A unique rough surfaced endoplasmic reticulum inclusion in pseudoachondroplasia. (4333078)
1972

Genetic Variations for Pseudoachondroplasia

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Pseudoachondroplasia:

62 (show all 30)
id Symbol AA change Variation ID SNP ID
1COMPp.Asp290AsnVAR_007614
2COMPp.Gly299ArgVAR_007615
3COMPp.Cys328ArgVAR_007616
4COMPp.Asp349ValVAR_007618
5COMPp.Cys387GlyVAR_007625
6COMPp.Gly440GluVAR_007628
7COMPp.Gly440ArgVAR_007629
8COMPp.Cys468TyrVAR_007632
9COMPp.Asp472TyrVAR_007634
10COMPp.Asp473GlyVAR_007635rs28936669
11COMPp.Asp482GlyVAR_007637
12COMPp.Asp518AsnVAR_007639
13COMPp.Thr585MetVAR_007641
14COMPp.Thr585ArgVAR_007642
15COMPp.Cys348ArgVAR_017102
16COMPp.Gly719AspVAR_017103
17COMPp.Pro234SerVAR_066790
18COMPp.Asp290GlyVAR_066791
19COMPp.Asp326TyrVAR_066796
20COMPp.Asp378ValVAR_066803
21COMPp.Cys387ArgVAR_066807
22COMPp.Asp446AsnVAR_066815
23COMPp.Cys448SerVAR_066816
24COMPp.Asp473HisVAR_066819
25COMPp.Asp475AsnVAR_066820
26COMPp.Asp507GlyVAR_066822
27COMPp.Asp511GlyVAR_066823
28COMPp.Asp515GlyVAR_066824
29COMPp.Thr529IleVAR_066825
30COMPp.Gly719SerVAR_066828

Expression for genes affiliated with Pseudoachondroplasia

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Pseudoachondroplasia

Search GEO for disease gene expression data for Pseudoachondroplasia.

Pathways for genes affiliated with Pseudoachondroplasia

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29KEGG, 12EMD Millipore, 53Reactome, 37NCBI BioSystems Database, 51QIAGEN, 52R&D Systems
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Pathways related to Pseudoachondroplasia according to GeneCards/GeneDecks:

(show all 17)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8THBS3, THBS1, COMP
2
Cell adhesion ECM remodeling
Hide members
9.7ACAN, FMOD, COL2A1
3
Hide members
9.7COL9A1, COL2A1, COL10A1, COMP
4
Hide members
9.7COL2A1, COL9A1, COL9A2, COL9A3
59.7COL2A1, COL9A1, COL9A2, COL9A3
6
Hide members
9.7COL2A1, COL9A1, COL9A2, COL9A3
79.6ACAN, CALM3, COL2A1, COL10A1
89.6THBS3, THBS1, COL2A1, COMP
9
Hide members
9.6COMP, COL2A1, THBS1, THBS3
10
Hide members
9.5FMOD, DCN, SLC26A2, ACAN
11
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9.5COL10A1, COL2A1, COL9A1, COL9A2, COL9A3
12
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9.2COL10A1, COL2A1, COL9A1, COL9A2, COL9A3, CALM3
13
Hide members
9.2COL2A1, COL9A1, COL9A2, COL9A3, THBS1, THBS3
14
Hide members
9.0COL10A1, COL2A1, COL9A1, COL9A2, COL9A3, CALM3
158.6COMP, COL2A1, FMOD, HAPLN1, DCN, MATN4
16
Hide members
7.6COL9A2, ACAN, THBS3, THBS1, MATN4, MATN1
17
Hide members
6.7COMP, COL10A1, COL2A1, ACAN, THBS1, MATN4

Compounds for genes affiliated with Pseudoachondroplasia

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44Novoseek, 24HMDB, 11DrugBank, 49PharmGKB, 28IUPHAR
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Compounds related to Pseudoachondroplasia according to GeneCards/GeneDecks:

(show all 21)
idCompoundScoreTop Affiliating Genes
1pentosidine4410.1ACAN, COL2A1, COMP
2neurocan449.9HAPLN1, DCN, ACAN
3chondroitin44 2410.9ACAN, DCN, FMOD
4tgf beta1449.8COMP, DCN, THBS1, ACAN
5dermatan sulfate449.8COMP, FMOD, DCN, ACAN
6sulfate44 2410.8COMP, COL2A1, DCN, SLC26A2, ACAN
7hydroxyproline44 11 2411.7P4HB, DCN, COL2A1
8dermatan44 2410.7DCN, ACAN
9alginate449.7COMP, COL2A1, DCN, MATN1, ACAN
10vitamin d449.6ACAN, THBS1, COL2A1, COMP
11guanidine hydrochloride449.5HAPLN1, DCN, P4HB
12keratan sulfate449.5COMP, FMOD, HAPLN1, DCN, ACAN
13dexamethasone44 49 28 1112.4ACAN, SLC26A2, THBS1, DCN, COL2A1
14agarose449.3COMP, COL2A1, DCN, P4HB, THBS1, ACAN
15chondroitin sulfate44 2410.2COMP, FMOD, HAPLN1, DCN, THBS1, ACAN
16hyaluronic acid44 2410.2COMP, FMOD, HAPLN1, DCN, THBS1, ACAN
17cysteine449.1COMP, COL2A1, DCN, P4HB, THBS1, SLC26A2
18nitric oxide44 11 2411.0COL2A1, DCN, P4HB, MATN1, THBS1, ACAN
19retinoic acid44 249.9COMP, COL2A1, DCN, P4HB, MATN1, THBS1
20glycosaminoglycan448.7COMP, COL2A1, FMOD, HAPLN1, DCN, MATN1
21procollagen448.7ACAN, COMP, COL2A1, FMOD, DCN, P4HB

GO Terms for genes affiliated with Pseudoachondroplasia

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16Gene Ontology
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Cellular components related to Pseudoachondroplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1collagen type IXGO:0055949.9COL9A3, COL9A2, COL9A1
2Golgi lumenGO:0057969.7ACAN, DCN, FMOD
3lysosomal lumenGO:0432029.4ACAN, DCN, FMOD
4endoplasmic reticulum lumenGO:0057889.2COL10A1, COL2A1, COL9A1, COL9A2, COL9A3, P4HB
5extracellular matrixGO:0310129.0COMP, FMOD, HAPLN1, DCN, THBS1, ACAN
6proteinaceous extracellular matrixGO:0055788.8COMP, FMOD, HAPLN1, MATN3, MATN1, ACAN
7extracellular regionGO:0055766.3ACAN, COMP, COL10A1, COL2A1, COL9A1, COL9A2

Biological processes related to Pseudoachondroplasia according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1tissue homeostasisGO:00189410.1COL9A1, COL2A1
2organ morphogenesisGO:0098879.9DCN, COL9A1, COMP
3keratan sulfate catabolic processGO:0423409.8FMOD, ACAN
4growth plate cartilage developmentGO:0034179.8COMP, COL9A1, THBS1, THBS3
5collagen catabolic processGO:0305749.7COL10A1, COL2A1, COL9A1, COL9A2, COL9A3
6extracellular matrix disassemblyGO:0226179.7COL10A1, COL2A1, COL9A1, COL9A2, COL9A3
7glycosaminoglycan metabolic processGO:0302039.6ACAN, SLC26A2, DCN, FMOD
8skeletal system developmentGO:0015019.5COMP, COL10A1, COL2A1, COL9A2, MATN3, ACAN
9axon guidanceGO:0074119.4COL9A3, COL9A2, COL9A1, COL2A1
10carbohydrate metabolic processGO:0059759.3FMOD, CALM3, DCN, SLC26A2, ACAN
11extracellular matrix organizationGO:0301987.0ACAN, COMP, COL10A1, COL2A1, COL9A1, COL9A2

Molecular functions related to Pseudoachondroplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1hyaluronic acid bindingGO:0055409.9ACAN, HAPLN1
2extracellular matrix structural constituent conferring tensile strengthGO:0300209.7COL9A3, COL9A2, COL9A1, COL2A1
3extracellular matrix structural constituentGO:0052019.5COMP, MATN3, MATN1, ACAN
4heparin bindingGO:0082019.5THBS3, THBS1, COMP

Products for genes affiliated with Pseudoachondroplasia

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  • Antibodies
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Sources for Pseudoachondroplasia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet